Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA916023251

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 578409

ClinVar RCV Id: RCV000701409

ClinVar Variation Id: 1745015

ClinVar RCV Id: RCV002335722 RCV003102680

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Met179Ile	CA053610 NM_001318832.2:c.537G>T CA394309174 NM_001318832.2:c.537G>A CA394309178 NM_001318832.2:c.537G>C